Ozark's Jackson Martin, age 3, is one of about 100 worldwide battling CLOVES syndrome

Feb. 28, 2014

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Jackson Martin with his father, Andy. Jackson has CLOVES syndrome, a rare syndrome that can affect a variety of things including the vascular system, organs, cause tumors and overgrowths. / SUBMITTED PHOTO

What is CLOVES?

CLOVES stands for Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi, Spinal/ Skeletal Anomalies or Scoliosis. • C is for congenital, something existing at birth and often before birth, or that develops during the first month of life. • L is for lipomatous which means pertaining to or resembling a benign tumor made up of mature fat cells. Most Cloves patients present with a soft fatty mass at birth, often visible on one or both sides of the back, legs and/or abdomen. • O is for overgrowth, an abnormal increase in the size of the body or a body part, often noted at birth. Patients with Cloves, may have areas of their bodies that grow at a faster rate than other people. Overgrowth of extremities (usually arms or legs) is seen with, large wide hands or feet, large fingers or toes, wide space between fingers and asymmetry of body parts. • V is for vascular malformations, a term used to refer to blood vessel abnormalities. • E is for epidermal nevi, the medical term for sharply-circumscribed and chronic lesions of the skin and benign by definition. These are often flesh-colored, raised or warty. • S is for spinal/skeletal anomalies, and/or scoliosis. Some patients with CLOVES have tethered spinal cord, vascular malformations in or around their spines or other spinal abnormalities. Aggressive spinal lesions (like AVM) can cause serious neurological deficits/paralysis. • A variety of signs and symptoms not covered in the CLOVES acronym include reddish/pinkish birthmark or port wine stain, a sandal gap in one or both feet, other skin abnormalities, orthopedic challenges related to knees, feet, or hips, and different sized kidneys or an absent kidney. — Source: CLOVES Syndrome Foundation Learn more online

Ashley Martin was 22 weeks pregnant when she found out something was wrong with the baby she was carrying.

“I remember thinking the entire world keeps moving and our world just cracked,” said the 24-year-old Ozark mom.

Jackson’s vascular system was malformed and he wasn’t expected to live long after birth. Once he was born, Jackson was diagnosed with CLOVES syndrome, a disease so rare he is only one of about 100 known cases worldwide.

Despite a bleak early prognosis, Jackson is 3 years old now. The family wants to share its story in honor of Rare Disease Day today, an annual event designed to raise awareness about rare diseases and their impact on patients’ lives.

Since Rare Disease Day was first launched in 2008 in Europe, more than 1,000 events have taken place in more than 70 countries.

Kathleen Martin, Jackson’s grandmother, said larger cities honor the day, but she couldn’t find anything going on locally, so the Martin family wanted to raise awareness.

“They make a big deal out of it in Pennsylvania and bigger cities with bigger hospitals, just not here,” she said. “It’s Feb. 28 every year. This year, we are trying to get it built up so people know what it is and next year we’d like to have something. There are other kids out there with rare diseases.”

CLOVES

CLOVES is an extremely rare progressive overgrowth disorder.

The symptoms vary from mild soft-tissue tumors to vascular malformations encompassing the spine or internal organs, and overgrowth of extremities.

“There is one little boy who lives in Arizona and his middle finger ... it’s like 13 inches long and 3 inches around. Jack looks pretty normal. He’s real thick around the middle because he has tumors,” Kathleen said.

“He’s a beautiful boy.”

All patients diagnosed with CLOVES have a large sandal gap, which is a gap between the big toe and other toes.

Patients do not have to exhibit every symptom, but often have a combination of symptoms, according to the CLOVES Syndrome Foundation.

There could be as many as 150 people with CLOVES. It’s hard to pin down an accurate count because the condition is diagnosed throughout the world, said Adrienne Blankenship, director of the CLOVES Syndrome Foundation.

“The Syndrome was first described in 2007 as CLOVE syndrome by a team at National Institute of Health but Boston Children’s Hospital expanded the acronym to include the ‘S’ for scoliosis and/or spinal anomalies, giving us the name ‘CLOVES Syndrome,’ ” she explained via email.

Life expectancy is not known.

“Not only is the condition too new to determine the life expectancy rate of our current population, but this disease presents with an array of different symptoms which can also skew these calculations,” she said.

Since the disease is so rare, families — including the Martins — have formed a CLOVES community online and that is where they seek support.

Life with CLOVES presents lots of challenges for families.

Jackson has had five major surgeries, a bowel rupture that almost killed him and hospitalized him from November 2011 to February 2012, and numerous other procedures.

Despite it all, he’s a happy kid who loves to color.

“He’s happy-go-lucky. Most people don’t even know something is wrong unless I lift up his shirt,” Ashley said.

His abdomen is primarily affected.

With CLOVES, the vascular system can eventually take over an organ.

He will never be allowed to play sports, and his big brothers, ages 4 and 5, know Jackson needs extra care.

“He bleeds all the time. All I have to say is Jackson is bleeding and they run and get the kit,” Ashley said.

The family travels every six months to Boston Children’s Hospital, which houses a team of experts in CLOVES.

Jackson is scared of long drives because he thinks he’s going to Children’s Hospital in Boston or St. Louis (he’s regularly seen in St. Louis and was born there because of his problems).

And then there are the medical bills.

“The bills are pretty big, but we just make payments every month,” Ashley said. “What else can you do?”

But this little boy is a blessing and a miracle.

“There are so many rare diseases out there that people need to open their eyes,” Ashley said.

“People think it won’t happen to them or their child, but it can happen to anyone.”